Noninvasive Prenatal Testing

Obstet Gynecol Surv. 2014 Feb;69(2):89-99. doi: 10.1097/OGX.0000000000000029.


Noninvasive prenatal testing (NIPT) refers to recently developed genetic tests of the maternal serum that allow higher detection rates of trisomy 21 and other chromosomal aneuploidies in high-risk pregnancies. Noninvasive prenatal test analyzes cell-free DNA (cfDNA) in the maternal serum. Approximately 3% to 15% of cfDNA in the maternal blood is of fetal origin. Analysis of cfDNA can help identify fetuses affected with trisomy 21 and several other fetal aneuploidies. Testing can be performed after 9 to 10 weeks' gestation and has a higher sensitivity and specificity for trisomy 21 than other aneuploidy screening test. Noninvasive prenatal test has been studied and validated in singleton pregnancies at risk for trisomy 21 secondary to advanced maternal age, an abnormal serum screen, personal or family history of aneuploidy, or abnormal ultrasound findings, if these are suggestive of trisomy 13, 18, or 21. The utilization of NIPT for genetic screening has increased rapidly since introduction of the first clinical test in October 2011. Currently, there are limitations to NIPT including the possibility of test failure (2.6%-5.4%) and the focus on only the common trisomies. Noninvasive prenatal test is a screening test, and both false-positive (0.2%-1%) and false-negative results can occur. As the technology for NIPT is further evaluated, this test is likely to be increasingly used for prenatal screening. This review provides the obstetric clinician with an update of the current issues concerning NIPT.

MeSH terms

  • Aneuploidy
  • Chromosome Aberrations*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Counseling
  • Down Syndrome / diagnosis
  • Female
  • Genetic Testing / methods*
  • Humans
  • Maternal Serum Screening Tests / methods*
  • Pregnancy
  • Pregnancy Trimester, First
  • Trisomy
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome